Research — GeneOps

rs29941 GWAS obesity locus near KCTD15 — modulates adipogenesis through AP-2 transcription factor regulation

Chromosome 19 Risk Allele G Category Appetite & Obesity Tags Obesity, Fat Metabolism, Adipogenesis, Appetite, Metabolic

KCTD15 (Potassium Channel Tetramerization Domain-Containing 15) was identified as an obesity-associated gene through large-scale genome-wide association studies. The rs29941 variant sits in an intergenic region on chromosome 19 near KCTD15, and the G allele has been consistently associated with modestly increased...

rs3087243 Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation and autoimmune disease susceptibility

Chromosome 2 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Tags Immune & Autoimmune, Thyroid, Diabetes, Rheumatoid Arthritis, Inflammation

CTLA-4 (Cytotoxic T-Lymphocyte Associated protein 4) is a critical immune checkpoint molecule(https://pubmed.ncbi.nlm.nih.gov/18078835/) that acts as a brake on the immune system. The CT60 variant (rs3087243), located in the 3' untranslated region of the CTLA4 gene(https://pubmed.ncbi.nlm.nih.gov/26656450/), is one...

rs33972313 Primary intestinal and renal vitamin C transporter — variant reduces ascorbate absorption and reabsorption efficiency

Chromosome 5 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamins, Vitamin C, Diet, Micronutrients

Vitamin C cannot be made by the human body. Every microgram of ascorbate() in your blood got there by being eaten and then actively transported across your intestinal lining and conserved by your kidneys. The gene SLC23A1 encodes SVCT1(), the transporter protein responsible for both of these steps. A single...

rs33980500 Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 binding, driving paradoxical hyperactivation of Th17 responses and psoriasis susceptibility

Chromosome 6 Risk Allele T Category Psoriasis & Spondyloarthropathy Tags Immune System, Autoimmune, Inflammation, Skin Health, Arthritis, Drug Metabolism, Immune & Gut, Psoriasis, Biologic Therapy, B-Cell Signaling

TRAF3IP2 encodes Act1 (also called CIKS — connector of kinase to stress-activated protein kinase), the essential adaptor protein(https://pubmed.ncbi.nlm.nih.gov/20953186/) that bridges IL-17 receptor activation to downstream inflammatory gene expression. When IL-17 binds its receptor on keratinocytes, fibroblasts,...

rs3758524 Intronic regulatory variant near the lymphotoxin beta receptor gene influencing LTBR expression and alternative NF-κB-driven immune signaling

Chromosome 10 Risk Allele A Category Innate Immunity & Infection Defense Tags Innate Immunity, Autoimmune, Infection Risk, Inflammation, Immune Function, Arthritis

The lymphotoxin beta receptor (LTBR)(https://www.ncbi.nlm.nih.gov/gene/4055) is a critical organizer of secondary lymphoid tissue architecture and innate immune tone. rs3758524 is a regulatory intronic variant associated with altered LTBR expression. Carriers of the minor A allele may have reduced LTBR signaling...

rs3820282 Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinity estrogen receptor alpha binding site, upregulating WNT4 in endometrial stromal cells; the T allele is associated with increased endometriosis and uterine fibroid risk through enhanced stromal invasibility, while the C allele associates with pelvic organ prolapse risk — an example of antagonistic pleiotropy in reproductive tissue biology

Chromosome 1 Risk Allele T Category Endometriosis & Uterine Health Tags Endometriosis, Uterine Fibroids, Reproductive Health, Fertility, Women's Health, Cancer Risk

Endometriosis — in which tissue resembling the uterine lining grows outside the uterus — affects approximately 10% of women of reproductive age and is one of the leading causes of chronic pelvic pain and infertility. The condition is strongly heritable, yet the molecular events that allow retrograde endometrial...

rs387906675 Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PROS1; homozygotes develop severe neonatal protein S deficiency with life-threatening thrombosis, and heterozygotes carry partial deficiency with meaningfully elevated VTE risk

Chromosome 3 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Thrombophilia, Thrombosis, Carrier Status, Blood Thinners

Protein S — encoded by the PROS1 gene on chromosome 3q11.1 — is one of the body's primary anticoagulant regulators. It circulates in plasma partly free (the active anticoagulant fraction, ~40%) and partly bound to C4b-binding protein (~60%). Free protein S serves as a cofactor for activated protein C...

rs4784165 Intronic PCOS susceptibility variant near TOX3; the G allele is associated with increased PCOS risk, insulin resistance, and altered metabolic features in affected women

Chromosome 16 Risk Allele G Category Fertility & Ovarian Function Tags PCOS, Insulin Resistance, Fertility, Hormones, Women's Health, Metabolic Health

to Insulin Resistance Polycystic ovary syndrome (PCOS) affects 5–15% of women of reproductive age worldwide and is the leading cause of anovulatory infertility. Beyond its reproductive features — irregular cycles, excess androgens, and polycystic ovaries — PCOS is fundamentally a metabolic disorder: 50–70% of...

rs5051 Promoter variant that increases angiotensinogen gene transcription, raising plasma AGT levels and contributing to hypertension risk

Chromosome 1 Risk Allele T Category Blood Pressure & Hypertension Tags Cardiovascular, Hypertension, Blood Pressure, Heart Disease, Salt Sensitivity, Atherosclerosis

Angiotensinogen (AGT)(https://www.ncbi.nlm.nih.gov/gene/183) is produced primarily in the liver and released into the bloodstream, where renin cleaves it to angiotensin I. Angiotensin I is then converted by ACE into angiotensin II — the potent vasoconstrictor that raises blood pressure, promotes sodium retention,...

rs505802 Upstream regulatory variant in the URAT1 urate reabsorption transporter gene; the C allele increases SLC22A12 expression and renal urate reabsorption, elevating serum uric acid and gout risk, with the strongest effects in East Asian and African populations where the C allele predominates

Chromosome 11 Risk Allele C Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Cardiovascular, Diet, Kidney Disease

Every day your kidneys filter about 50 mg/dL of uric acid from the blood, but roughly 90% of that filtered urate gets reabsorbed — pulled back into the bloodstream before it can reach your urine. The single most important protein doing that reabsorption is URAT1(https://pubmed.ncbi.nlm.nih.gov/19503597/). The...